Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Thomas Bourgeron | Alberto Segre | Alberto Maria Segre | Gillian Baird | Joseph Piven | Annemarie Poustka | Ellen M Wijsman | Daniel E Weeks | Geraldine Dawson | Sven Bölte | Christian R Marshall | Helen McConachie | Christopher Gillberg | Andrew Pickles | Chantal Kemner | Rita M Cantor | Bernie Devlin | Catherine Lord | Kacie J Meyer | Jessica Brian | Wendy Roberts | Maja Bucan | Lars Feuk | Stephen W Scherer | Claudia Schuster | Stephen J. Guter | Marion Leboyer | Rhinda Goedken | Veronica J Vieland | Fred Volkmar | Fritz Poustka | Pamela Flodman | Edwin H Cook | Eric Hollander | Rudolph E Tanzi | Lonnie Zwaigenbaum | Peter Szatmari | Andrew D Paterson | Janine A Lamb | Lambertus Klei | Hilary Coon | Jeff Munson | John R Gilbert | T Conrad Gilliam | Jonathan L Haines | Gerard D Schellenberg | Eric Fombonne | Clara Lajonchere | K. Davis | L. Feuk | S. Scherer | C. Lese-Martin | S. Spence | D. Ledbetter | J. Sutcliffe | D. Geschwind | T. Gilliam | C. Lajonchere | L. Klei | E. Bacchelli | A. Bailey | G. Baird | T. Berney | S. Bölte | P. Bolton | T. Bourgeron | J. Brian | S. Bryson | C. Corsello | G. Dawson | A. Estes | S. Folstein | E. Fombonne | J. Gilbert | C. Gillberg | Jonathan Green | S. Guter | Vanessa Hus | S. Klauck | J. Lamb | M. Leboyer | B. Leventhal | Xiao-qing Liu | C. Lord | L. Lotspeich | E. Maestrini | C. Mantoulan | C. Marshall | H. McConachie | W. McMahon | N. Minshew | K. Papanikolaou | J. Parr | A. Pickles | J. Piven | A. Poustka | F. Poustka | W. Roberts | B. Rogé | M. Rutter | Jeff Salt | Lili Senman | V. Sheffield | I. Sousa | N. Sykes | A. Thompson | J. Tsiantis | J. Vincent | F. Volkmar | S. Wallace | T. Wassink | K. Wittemeyer | L. Zwaigenbaum | J. Buxbaum | R. Cantor | E. Cook | H. Coon | M. Cuccaro | B. Devlin | J. Haines | J. Hallmayer | A. Monaco | A. Paterson | M. Pericak-Vance | G. Schellenberg | P. Szatmari | V. Vieland | E. Wijsman | C. Betancur | M. Bucan | D. Weeks | M. Spence | E. Hollander | J. Constantino | Marshall B. Jones | M. Herbert | R. Tanzi | H. van Engeland | C. Kemner | M. State | W. Staal | A. Le Couteur | Cheng Qian | Chang-En Yu | J. Munson | R. Abramson | J. Silverman | H. Wright | E. Weisblatt | M. D. de Jonge | B. Felder | Moyra J. Smith | P. Rodier | P. Flodman | Janet Miller | S. Feineis-Matthews | M. Tauber | A. Shih | C. Schuster | J. Skaug | C. Aldred | C. Stodgell | Claudio Toma | Cheng Qian | Chang-En Yu | Xiao-Qing Liu | Anthony J Bailey | Patrick F Bolton | Daniel H Geschwind | Margaret A Pericak-Vance | John B Vincent | Catalina Betancur | Bernadette Rogé | Anthony P Monaco | Lili Senman | Bennett L Leventhal | Vanessa Hus | K. J. Meyer | John Tsiantis | Kazuhiro Kobayashi | Joseph D Buxbaum | Michael L Cuccaro | Kenneth L Davis | Annette Estes | Moyra Smith | M Anne Spence | Nancy Minshew | Andy Shih | Thomas H Wassink | John N Constantino | Christina Corsello | Susan E Bryson | C. Samango-Sprouse | C. Toma | William M McMahon | R. Goedken | Bärbel Felder | Joachim Hallmayer | Elena Maestrini | Matthew State | E. Korvatska | Marshall B Jones | Wouter G Staal | Jonathan Green | David H Ledbetter | James S Sutcliffe | Stan Nelson | Elena Bacchelli | W. Brown | Catherine Aldred | Jeremy M Silverman | Simon Wallace | Kazuhiro Kobayashi | Patricia M Rodier | Sabine Feineis-Matthews | Evelyn Herbrecht | Christopher Bartlett | S. Nelson | Herman Van Engeland | Sabine M Klauck | Maïté Tauber | Stephen J Guter | Jeff Salt | Jennifer L Skaug | Ann P Thompson | La Vonne Mangin | Harry H Wright | Ruth K Abramson | Linda Lotspeich | Susan E Folstein | Val Sheffield | W Ted Brown | Martha Herbert | Christa Lese-Martin | Janet Miller | Carol A Samango-Sprouse | Sarah Spence | Elena Korvatska | Chris Stodgell | Ping Guo Tepper | Carine Mantoulan | Kerstin Wittemeyer | Gabi Schmötzer | Katerina Papanikolaou | Francesca Blasi | Simona Carone | Maretha de Jonge | Frederieke Koop | Marjolein Langemeijer | Channa Hijmans | Michael L Rutter | Emma Weisblatt | Julie-Anne Wilkinson | Ann Le Couteur | Tom Berney | Kostas Francis | Gemma Honeyman | Aislinn Hutchinson | Jeremy R Parr | Gabrielle Barnby | Ines Sousa | Nuala Sykes | G. Barnby | Channa T. Hijmans | Kacie J. Meyer | A. Hutchinson | Christopher Bartlett | P. Tepper | S. Carone | L. Mangin | Evelyn Herbrecht | G. Schmötzer | F. Blasi | F. Koop | Marjolein Langemeijer | Julie Wilkinson | Kostas Francis | Gemma Honeyman | J. Wilkinson | J. Green | J. Gilbert | Sabine Feineis-Matthews | Simona Carone | M. Langemeijer | Christina M. Corsello | Christa Lese-Martin | Carine Mantoulan | Kerstin Wittemeyer | J. Haines | Joachim Hallmayer | Claudio Toma

[1]  H. Houlden,et al.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease , 2007, NeuroMolecular Medicine.

[2]  Thomas Bourgeron,et al.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.

[3]  C. Freitag,et al.  The genetics of autistic disorders and its clinical relevance: a review of the literature , 2007, Molecular Psychiatry.

[4]  Yoshio Minabe,et al.  Increased serum levels of glutamate in adult patients with autism , 2006, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

[5]  Charles E. Schwartz,et al.  High frequency of neurexin 1β signal peptide structural variants in patients with autism , 2006, Neuroscience Letters.

[6]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[7]  G. Dawson,et al.  Evidence for genetic linkage of autism to chromosomes 7 and 4 , 2006, Molecular Psychiatry.

[8]  Matthew K Belmonte,et al.  Fragile X syndrome and autism at the intersection of genetic and neural networks , 2006, Nature Neuroscience.

[9]  Thomas C. Südhof,et al.  Neuroligins Determine Synapse Maturation and Function , 2006, Neuron.

[10]  Andrew J Sharp,et al.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.

[11]  C. Corsello,et al.  Combining information from multiple sources in the diagnosis of autism spectrum disorders. , 2006, Journal of the American Academy of Child and Adolescent Psychiatry.

[12]  D. Reich,et al.  Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.

[13]  T. Bourgeron,et al.  Searching for ways out of the autism maze: genetic, epigenetic and environmental clues , 2006, Trends in Neurosciences.

[14]  Deborah Blacker,et al.  Variance calculations for identity-by-descent estimation. , 2006, American journal of human genetics.

[15]  Bernardo L Sabatini,et al.  Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2 , 2005, Nature Neuroscience.

[16]  Ton Feuth,et al.  Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.

[17]  T. Saheki,et al.  Reduced N-Acetylaspartate Levels in Mice Lacking Aralar, a Brain- and Muscle-type Mitochondrial Aspartate-glutamate Carrier* , 2005, Journal of Biological Chemistry.

[18]  J. Rees Prevalence , 2005, BMJ : British Medical Journal.

[19]  Eric Fombonne,et al.  Pervasive developmental disorders in preschool children: confirmation of high prevalence. , 2005, The American journal of psychiatry.

[20]  Alessandro Rinaldo,et al.  Characterization of multilocus linkage disequilibrium , 2005, Genetic epidemiology.

[21]  E Maestrini,et al.  Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects , 2005, Journal of Medical Genetics.

[22]  T. Südhof,et al.  Dissection of Synapse Induction by Neuroligins EFFECT OF A NEUROLIGIN MUTATION ASSOCIATED WITH AUTISM* , 2005 .

[23]  A. R.,et al.  Review of literature , 1969, American Potato Journal.

[24]  Ann Marie Craig,et al.  Neurexins Induce Differentiation of GABA and Glutamate Postsynaptic Specializations via Neuroligins , 2004, Cell.

[25]  T. Matise,et al.  A combined linkage-physical map of the human genome. , 2004, American journal of human genetics.

[26]  D. Geschwind,et al.  Evidence for sex-specific risk alleles in autism spectrum disorder. , 2004, American journal of human genetics.

[27]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[28]  Edwin H Cook,et al.  Autism as a paradigmatic complex genetic disorder. , 2004, Annual review of genomics and human genetics.

[29]  Mary Sara McPeek,et al.  Best Linear Unbiased Allele‐Frequency Estimation in Complex Pedigrees , 2004, Biometrics.

[30]  S. Scherer,et al.  Molecular Cytogenetics of Autism , 2004 .

[31]  M. Peruggia The Analysis of Gene Expression Data: Methods and Software , 2004 .

[32]  Albert David,et al.  X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. , 2004, American journal of human genetics.

[33]  P. Kugler,et al.  Developmental expression of glutamate transporters and glutamate dehydrogenase in astrocytes of the postnatal rat hippocampus , 2004, Hippocampus.

[34]  F. Baas,et al.  Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). , 2004, Genetic counseling.

[35]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[36]  Cheng Li,et al.  DNA-Chip Analyzer (dChip) , 2003 .

[37]  Martin N. Rossor,et al.  Advanced online publication. , 2005, Nature structural biology.

[38]  N. Risch,et al.  On the twin risk in autism. , 2002, American journal of human genetics.

[39]  Christoph Lange,et al.  On a general class of conditional tests for family‐based association studies in genetics: the asymptotic distribution, the conditional power, and optimality considerations , 2002, Genetic epidemiology.

[40]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[41]  J. Pevsner,et al.  Postmortem brain abnormalities of the glutamate neurotransmitter system in autism , 2001, Neurology.

[42]  N J Camp,et al.  Correcting for multiple analyses in genomewide linkage studies , 2001, Annals of human genetics.

[43]  J. Piven The broad autism phenotype: a complementary strategy for molecular genetic studies of autism. , 2001, American journal of medical genetics.

[44]  Daniel F. Gudbjartsson,et al.  Allegro, a new computer program for multipoint linkage analysis , 2000, Nature genetics.

[45]  L. Shaffer,et al.  Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.

[46]  Courtney A. Harper,et al.  A genomic screen of autism: evidence for a multilocus etiology. , 1999, American journal of human genetics.

[47]  J R O'Connell,et al.  PedCheck: a program for identification of genotype incompatibilities in linkage analysis. , 1998, American journal of human genetics.

[48]  E. Lander,et al.  Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.

[49]  P Bolton,et al.  Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. , 1995, American journal of human genetics.

[50]  A. Bailey,et al.  Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.

[51]  W. McMahon,et al.  The UCLA-University of Utah epidemiologic survey of autism: prevalence. , 1989, The American journal of psychiatry.

[52]  P. Szatmari,et al.  Stoppage rules and genetic studies of autism , 1988, Journal of autism and developmental disorders.

[53]  Cedric A. B. Smith,et al.  Introduction to Quantitative Genetics , 1960 .